Canonical Allele Identifier: CA407753340

Gene: PRPF31

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54128175C>T , CM000681.2:g.54128175C>T	GRCh38
NC_000019.8:g.59323362C>T	NCBI36
NG_009759.1:g.17761C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015629.4:c.1048C>T MANE Select	NP_056444.3:p.Gln350Ter
ENST00000321030.9:c.1048C>T MANE Select	ENSP00000324122.4:p.Gln350Ter
NM_015629.3:c.1048C>T	NP_056444.3:p.Gln350Ter
ENST00000321030.8:c.1048C>T	ENSP00000324122.4:p.Gln350Ter
ENST00000391755.1:c.1030C>T	ENSP00000375635.1:p.Gln344Ter
ENST00000419967.5:c.1048C>T	ENSP00000405166.2:p.Gln350Ter
ENST00000466404.5:n.918C>T
ENST00000498612.1:n.859C>T
XM_006723137.2:c.1048C>T	XP_006723200.1:p.Gln350Ter
XM_006723137.4:c.1048C>T	XP_006723200.1:p.Gln350Ter
XR_002958293.1:n.1206C>T
XR_935789.1:n.1125C>T
XR_935789.3:n.1137C>T